Gaucher Disease is a rare hereditary disorder that affects all populations, but is most prevalent among Jews of Central and Eastern European descent. Approximately one in every 450 Ashkenazi Jews has Gaucher disease. People who have the disease lack an enzyme to breakdown a certain type of fat molecule in the body. As a result, those with the disease can have mild to disabling symptoms that often include severe pain from swelling in the bones, spleen, and other organs and tissues. They can also experience severe anemia and fatigue, among other symptoms.

Until the 1960s researchers had no idea what caused Gaucher disease. Today much of what is known about Gaucher and how to treat it is a result of five decades of research led by Dr. Roscoe Brady, an internationally acclaimed scientist whose pioneering work identified the cause of Gaucher, how to diagnose it, and how to treat it. Dr. Brady also led the successful effort to identify the metabolic defects in Neimann-Pick, Fabry, and Tay–Sachs disease. He has won numerous awards for his work, including the Kovalenko Medal from the National Academy of Sciences. Dr. Brady is the chief of the Developmental and Metabolic Neurology Branch of the National Institute of Neurological Disorders and Stroke, which is part of the National Institutes of Health.

Reporter Laurie Udesky interviewed Dr. Brady about some of the highlights of his scientific career. He told her about the investigation that led to his discovery of the cause of Gaucher. He also described the climate in the 1960s when his assertion that enzyme therapy could help people with Gaucher was perceived as a heretical proposition in scientific circles.

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Digital Audio Team

Reporter, writer, producer, and digital audio editor: Laurie Udesky
Script editors: Diana Hembree
Sound engineer: Laurie Udesky
Web engineering: Eric Turner

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First published September 18, 2006
Last updated May 14, 2008
Copyright © 2006 Consumer Health Interactive